title: Hypospermiogenesis and chromosomal aberrations. A clinical study of azoospermic and oligozoospermic men with normal and abnormal karyotype.
abstract: Clinical examinations including cytogenetical analyses were performed in 356 male partners of barren couples, 176 with azoospermia and 180 men with sperm counts below 10 million/ml. The chromosomal aberrations observed were: Klinefelter's syndrome (15 cases), 46 XX (3), 47 XYY (1), Y-chromosome anomalies (5), robertsonian (8) and reciprocal autosomal translocations (1), and 46 XY 16 h + (1). If minor variants were excluded this gave an incidence of constitutional chromosomal abnormalities of 11.9% in the azoospermia group and 4.4% in the oligozoospermia group. The phenotypes expressed by the specific anomalies showed great variations and appeared to be practically indistinguishable from those individuals having a normal karyotype.
mesh_terms: D002869:Chromosome Aberrations; D004958:Estradiol / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000503:physiopathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013081:Sperm Motility; D013739:Testosterone / Q000097:blood; D014178:Translocation, Genetic
chemical_list: D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone